title: Triple A (Allgrove) syndrome: an unusual association with syringomyelia.
abstract: Triple A (Allgrove) syndrome was first described by Allgrove in 1978 in two pairs of siblings. Since then, about 100 cases have been reported, all of them displaying an autosomal recessive pattern of inheritance. Clinical picture is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure. A progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation is often associated. The triple A syndrome gene, designated AAAS, is localized on chromosome 12q13. It consists of 16 exons, encoding for a 546 aminoacid protein called ALADIN (Alacrimia-Achalasia-aDrenal Insufficiency Neurologic disorder).
authors.forename: Carla
authors.initials: C
authors.lastname: Bizzarri
authors.forename: Danila
authors.initials: D
authors.lastname: Benevento
authors.forename: Cesare
authors.initials: C
authors.lastname: Terzi
authors.forename: Angela
authors.initials: A
authors.lastname: Huebner
authors.forename: Marco
authors.initials: M
authors.lastname: Cappa
mesh_terms: D000293:Adolescent; D000309:Adrenal Insufficiency / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D001139:Arnold-Chiari Malformation / Q000150:complications* / Q000175:diagnosis; D004931:Esophageal Achalasia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics; D028861:Nuclear Pore Complex Proteins / Q000235:genetics; D013595:Syringomyelia / Q000150:complications* / Q000175:diagnosis
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins